Griffiths A D
J Med Genet. 1983 Oct;20(5):361-4. doi: 10.1136/jmg.20.5.361.
A family is described in which three male members died in early infancy with severe thrombocytopenia and a fourth in adolescence with aplastic anaemia. One child was investigated in detail and shown to have amegakaryocytic thrombocytopenia, progressing to pancytopenia as a result of bone marrow hypoplasia. His associated congenital abnormalities differed from those described in Fanconi's aplastic anaemia, his chromosomes were normal, and the fetal haemoglobin level was 48%. Amegakaryocytic thrombocytopenia is itself rare and the index case appears unique. It is suggested that this family has a previously undescribed X linked variety of amegakaryocytic thrombocytopenia.
本文描述了一个家族，其中三名男性成员在婴儿早期死于严重血小板减少症，第四名男性成员在青春期死于再生障碍性贫血。对一名儿童进行了详细检查，发现其患有无巨核细胞性血小板减少症，由于骨髓发育不全进而发展为全血细胞减少症。他相关的先天性异常与范可尼贫血中所描述的不同，其染色体正常，胎儿血红蛋白水平为48%。无巨核细胞性血小板减少症本身就很罕见，该索引病例似乎是独一无二的。提示这个家族有一种先前未被描述的X连锁型无巨核细胞性血小板减少症。
